Incidental Mutation 'IGL01154:Arap3'
ID 53213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arap3
Ensembl Gene ENSMUSG00000024451
Gene Name ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3
Synonyms Centd3, E030006K04Rik, DRAG1
Accession Numbers
Essential gene? Probably essential (E-score: 0.814) question?
Stock # IGL01154
Quality Score
Status
Chromosome 18
Chromosomal Location 38105681-38132022 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38129787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 125 (S125T)
Ref Sequence ENSEMBL: ENSMUSP00000035662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042944]
AlphaFold Q8R5G7
Predicted Effect probably benign
Transcript: ENSMUST00000042944
AA Change: S125T

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: S125T

DomainStartEndE-ValueType
SAM 1 68 1.5e-7 SMART
low complexity region 81 98 N/A INTRINSIC
low complexity region 134 142 N/A INTRINSIC
PH 283 376 3.4e-16 SMART
PH 390 480 1.61e-8 SMART
ArfGap 484 606 1.44e-25 SMART
low complexity region 642 661 N/A INTRINSIC
PH 671 785 2.86e1 SMART
PH 795 901 6.87e-3 SMART
RhoGAP 913 1089 2.11e-47 SMART
Pfam:RA 1113 1206 6.2e-16 PFAM
PH 1220 1323 3.46e-8 SMART
low complexity region 1388 1407 N/A INTRINSIC
low complexity region 1457 1469 N/A INTRINSIC
low complexity region 1475 1486 N/A INTRINSIC
low complexity region 1494 1529 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted(5)

Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
2210408I21Rik T G 13: 77,429,213 (GRCm39) F767V probably benign Het
A2m C A 6: 121,650,501 (GRCm39) S1203* probably null Het
Abcc3 T C 11: 94,250,058 (GRCm39) probably benign Het
Adamts13 T C 2: 26,896,206 (GRCm39) Y1200H probably benign Het
Aldh1l2 T C 10: 83,356,237 (GRCm39) D51G probably damaging Het
Apc2 A G 10: 80,148,903 (GRCm39) E1319G possibly damaging Het
Atp2b1 T A 10: 98,832,750 (GRCm39) V417E probably damaging Het
Bpifa1 T A 2: 153,985,920 (GRCm39) D78E probably benign Het
Catsperb C A 12: 101,591,940 (GRCm39) A1090E possibly damaging Het
Ceacam9 C A 7: 16,457,886 (GRCm39) T138K probably damaging Het
Cenpf T A 1: 189,412,530 (GRCm39) E244D probably benign Het
Cep135 A T 5: 76,754,643 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Col15a1 A C 4: 47,208,450 (GRCm39) T6P possibly damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Dnah5 A T 15: 28,458,802 (GRCm39) T4480S possibly damaging Het
Fastkd1 T C 2: 69,520,404 (GRCm39) probably null Het
Flt1 A G 5: 147,512,966 (GRCm39) Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 (GRCm39) M469V probably benign Het
Fxr2 T C 11: 69,532,259 (GRCm39) probably benign Het
Gm10801 A T 2: 98,494,328 (GRCm39) Y135F probably benign Het
Grm4 A T 17: 27,653,711 (GRCm39) C699* probably null Het
Hcn4 A G 9: 58,766,362 (GRCm39) T677A unknown Het
Igkv9-123 G T 6: 67,931,518 (GRCm39) probably benign Het
Irf4 T A 13: 30,941,404 (GRCm39) H253Q possibly damaging Het
Jakmip2 T C 18: 43,723,744 (GRCm39) probably benign Het
Kmt2c A G 5: 25,489,397 (GRCm39) V1134A probably damaging Het
Limch1 G T 5: 66,903,301 (GRCm39) E17* probably null Het
Nap1l1 T A 10: 111,322,536 (GRCm39) N72K probably damaging Het
Or4x11 T C 2: 89,867,812 (GRCm39) L183P probably damaging Het
Or51t4 T C 7: 102,598,046 (GRCm39) S115P probably damaging Het
Otud6b A T 4: 14,811,732 (GRCm39) Y304N probably damaging Het
Pdcd10 A C 3: 75,448,540 (GRCm39) M8R probably damaging Het
Ppip5k1 T C 2: 121,173,660 (GRCm39) T404A probably damaging Het
Ppp2r2d C T 7: 138,483,940 (GRCm39) A197V probably benign Het
Psg25 C T 7: 18,258,624 (GRCm39) D351N probably benign Het
Sbno1 A T 5: 124,548,312 (GRCm39) I87N probably damaging Het
Stfa2l1 C T 16: 35,980,307 (GRCm39) probably benign Het
Sugp2 T A 8: 70,695,349 (GRCm39) D107E probably damaging Het
Syne1 G T 10: 5,310,848 (GRCm39) F576L probably damaging Het
Syne3 A G 12: 104,924,328 (GRCm39) F357S probably benign Het
Tenm2 A G 11: 35,932,371 (GRCm39) L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 (GRCm39) K117* probably null Het
Tram1 C T 1: 13,649,673 (GRCm39) probably null Het
Trank1 T A 9: 111,215,468 (GRCm39) D1799E probably benign Het
Ttc14 A T 3: 33,857,248 (GRCm39) Y198F probably benign Het
Ube3b A G 5: 114,544,313 (GRCm39) N570S probably null Het
Ube4b A G 4: 149,449,927 (GRCm39) F412S probably benign Het
Vac14 T C 8: 111,380,239 (GRCm39) probably benign Het
Vmn2r65 T C 7: 84,592,729 (GRCm39) T493A probably benign Het
Zfp408 T C 2: 91,478,351 (GRCm39) probably benign Het
Zfp580 C T 7: 5,056,267 (GRCm39) T209I possibly damaging Het
Other mutations in Arap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Arap3 APN 18 38,108,979 (GRCm39) missense probably damaging 1.00
IGL01145:Arap3 APN 18 38,122,232 (GRCm39) missense probably benign
IGL01305:Arap3 APN 18 38,124,380 (GRCm39) critical splice donor site probably null
IGL01542:Arap3 APN 18 38,123,889 (GRCm39) missense probably damaging 0.98
IGL01543:Arap3 APN 18 38,123,889 (GRCm39) missense probably damaging 0.98
IGL01544:Arap3 APN 18 38,123,889 (GRCm39) missense probably damaging 0.98
IGL01545:Arap3 APN 18 38,123,889 (GRCm39) missense probably damaging 0.98
IGL01677:Arap3 APN 18 38,129,700 (GRCm39) missense probably benign
IGL01925:Arap3 APN 18 38,117,299 (GRCm39) missense probably benign 0.21
IGL01933:Arap3 APN 18 38,111,506 (GRCm39) missense possibly damaging 0.65
IGL02048:Arap3 APN 18 38,130,032 (GRCm39) missense possibly damaging 0.56
IGL02064:Arap3 APN 18 38,124,754 (GRCm39) missense probably damaging 1.00
IGL02207:Arap3 APN 18 38,120,906 (GRCm39) missense probably benign 0.00
IGL02376:Arap3 APN 18 38,111,506 (GRCm39) missense possibly damaging 0.95
IGL02531:Arap3 APN 18 38,122,804 (GRCm39) missense probably damaging 0.99
IGL02568:Arap3 APN 18 38,129,711 (GRCm39) missense probably benign 0.32
IGL02640:Arap3 APN 18 38,120,855 (GRCm39) missense possibly damaging 0.71
IGL02658:Arap3 APN 18 38,124,047 (GRCm39) missense probably benign 0.09
IGL03090:Arap3 APN 18 38,122,165 (GRCm39) missense probably benign 0.00
IGL03352:Arap3 APN 18 38,114,355 (GRCm39) splice site probably benign
ANU22:Arap3 UTSW 18 38,124,380 (GRCm39) critical splice donor site probably null
P0016:Arap3 UTSW 18 38,117,401 (GRCm39) missense probably benign 0.00
PIT4260001:Arap3 UTSW 18 38,129,948 (GRCm39) missense probably benign 0.08
R0066:Arap3 UTSW 18 38,129,760 (GRCm39) missense probably benign 0.01
R0324:Arap3 UTSW 18 38,106,278 (GRCm39) missense possibly damaging 0.93
R0562:Arap3 UTSW 18 38,108,593 (GRCm39) missense probably damaging 1.00
R1289:Arap3 UTSW 18 38,115,026 (GRCm39) missense possibly damaging 0.95
R1346:Arap3 UTSW 18 38,108,971 (GRCm39) missense probably damaging 1.00
R1419:Arap3 UTSW 18 38,111,485 (GRCm39) missense possibly damaging 0.51
R1470:Arap3 UTSW 18 38,122,249 (GRCm39) critical splice acceptor site probably null
R1470:Arap3 UTSW 18 38,122,249 (GRCm39) critical splice acceptor site probably null
R1537:Arap3 UTSW 18 38,122,737 (GRCm39) critical splice donor site probably null
R1644:Arap3 UTSW 18 38,117,298 (GRCm39) missense probably damaging 1.00
R1731:Arap3 UTSW 18 38,122,965 (GRCm39) missense probably benign 0.01
R1758:Arap3 UTSW 18 38,122,965 (GRCm39) missense probably benign 0.01
R1843:Arap3 UTSW 18 38,108,636 (GRCm39) missense probably damaging 1.00
R1907:Arap3 UTSW 18 38,129,724 (GRCm39) missense probably benign 0.28
R1954:Arap3 UTSW 18 38,115,055 (GRCm39) missense probably damaging 1.00
R2124:Arap3 UTSW 18 38,106,403 (GRCm39) missense probably damaging 0.98
R2135:Arap3 UTSW 18 38,107,509 (GRCm39) missense probably damaging 1.00
R2172:Arap3 UTSW 18 38,123,613 (GRCm39) missense probably damaging 1.00
R2418:Arap3 UTSW 18 38,122,997 (GRCm39) missense probably damaging 1.00
R2419:Arap3 UTSW 18 38,122,997 (GRCm39) missense probably damaging 1.00
R2907:Arap3 UTSW 18 38,123,580 (GRCm39) missense possibly damaging 0.88
R4425:Arap3 UTSW 18 38,111,653 (GRCm39) missense probably damaging 1.00
R4669:Arap3 UTSW 18 38,129,307 (GRCm39) missense probably benign 0.08
R4734:Arap3 UTSW 18 38,129,328 (GRCm39) missense probably benign 0.00
R4815:Arap3 UTSW 18 38,106,296 (GRCm39) missense probably benign
R5328:Arap3 UTSW 18 38,124,740 (GRCm39) missense possibly damaging 0.92
R5350:Arap3 UTSW 18 38,115,088 (GRCm39) missense probably damaging 1.00
R5466:Arap3 UTSW 18 38,129,789 (GRCm39) missense probably benign 0.00
R5482:Arap3 UTSW 18 38,107,727 (GRCm39) missense possibly damaging 0.95
R5572:Arap3 UTSW 18 38,124,119 (GRCm39) missense probably damaging 1.00
R5779:Arap3 UTSW 18 38,117,418 (GRCm39) missense probably damaging 1.00
R6053:Arap3 UTSW 18 38,123,824 (GRCm39) missense probably damaging 0.98
R6144:Arap3 UTSW 18 38,118,486 (GRCm39) missense probably damaging 0.98
R6166:Arap3 UTSW 18 38,107,423 (GRCm39) missense probably damaging 1.00
R6248:Arap3 UTSW 18 38,124,407 (GRCm39) missense probably benign 0.09
R6266:Arap3 UTSW 18 38,123,844 (GRCm39) missense probably damaging 0.98
R6385:Arap3 UTSW 18 38,130,084 (GRCm39) nonsense probably null
R6694:Arap3 UTSW 18 38,124,590 (GRCm39) critical splice donor site probably null
R6856:Arap3 UTSW 18 38,112,916 (GRCm39) missense possibly damaging 0.95
R7073:Arap3 UTSW 18 38,107,495 (GRCm39) nonsense probably null
R7297:Arap3 UTSW 18 38,106,616 (GRCm39) missense possibly damaging 0.81
R7352:Arap3 UTSW 18 38,106,331 (GRCm39) missense probably benign 0.00
R7652:Arap3 UTSW 18 38,111,505 (GRCm39) missense probably damaging 0.99
R7726:Arap3 UTSW 18 38,122,520 (GRCm39) missense probably damaging 0.99
R7747:Arap3 UTSW 18 38,121,941 (GRCm39) splice site probably null
R7944:Arap3 UTSW 18 38,122,232 (GRCm39) missense probably benign
R8152:Arap3 UTSW 18 38,124,410 (GRCm39) missense possibly damaging 0.61
R8338:Arap3 UTSW 18 38,106,683 (GRCm39) missense probably damaging 0.99
R8549:Arap3 UTSW 18 38,106,365 (GRCm39) missense probably benign 0.17
R8793:Arap3 UTSW 18 38,107,492 (GRCm39) missense probably benign 0.04
R8876:Arap3 UTSW 18 38,130,077 (GRCm39) missense possibly damaging 0.67
R9142:Arap3 UTSW 18 38,112,934 (GRCm39) missense possibly damaging 0.80
R9237:Arap3 UTSW 18 38,112,934 (GRCm39) missense possibly damaging 0.80
R9583:Arap3 UTSW 18 38,109,096 (GRCm39) missense probably damaging 0.97
R9696:Arap3 UTSW 18 38,112,905 (GRCm39) missense probably damaging 1.00
X0011:Arap3 UTSW 18 38,107,154 (GRCm39) critical splice donor site probably null
X0026:Arap3 UTSW 18 38,118,364 (GRCm39) critical splice donor site probably null
X0027:Arap3 UTSW 18 38,106,538 (GRCm39) splice site probably null
X0066:Arap3 UTSW 18 38,124,699 (GRCm39) missense probably benign
Posted On 2013-06-21